Scientific Papers
01/11/2019
European journal of medical genetics
Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy
Salinas V, Vega P, Piccirilli MV, Chicco C, Ciraolo C, Christiansen S, Consalvo D, Maturo JP, Medina N, González-Morón D, Novaro V, Perrone C, García MDC, Agosta G, Silva W, Kauffman M.